C2CD2_HUMAN
ID C2CD2_HUMAN Reviewed; 696 AA.
AC Q9Y426; Q5R2V7; Q6AHX8; Q9NSE6;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 10-JAN-2006, sequence version 2.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=C2 domain-containing protein 2;
DE AltName: Full=Transmembrane protein 24-like;
GN Name=C2CD2; Synonyms=C21orf25, C21orf258, TMEM24L;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Fetal brain, and Pancreas;
RA Shimizu N., Kudoh J., Shibuya K.;
RT "Homo sapiens mRNA for C21orf25 long form, complete cds.";
RL Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 511-696 (ISOFORM 3).
RC TISSUE=Cervix, Testis, and Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-435; SER-441 AND THR-445, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-435 AND SER-441, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-435, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9Y426-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y426-2; Sequence=VSP_041071;
CC Name=3;
CC IsoId=Q9Y426-3; Sequence=VSP_041072;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA95528.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=CAH10536.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
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DR EMBL; AB047784; BAD74068.1; -; mRNA.
DR EMBL; AB047785; BAD74069.1; -; mRNA.
DR EMBL; AL050173; CAB43307.1; -; mRNA.
DR EMBL; AL833323; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR627455; CAH10536.1; ALT_SEQ; mRNA.
DR EMBL; AP001745; BAA95528.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AP001619; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS13677.1; -. [Q9Y426-2]
DR CCDS; CCDS42933.1; -. [Q9Y426-1]
DR PIR; T08793; T08793.
DR RefSeq; NP_056315.1; NM_015500.1. [Q9Y426-1]
DR RefSeq; NP_950251.1; NM_199050.2. [Q9Y426-2]
DR RefSeq; XP_005261166.1; XM_005261109.4. [Q9Y426-2]
DR AlphaFoldDB; Q9Y426; -.
DR BioGRID; 117454; 92.
DR IntAct; Q9Y426; 7.
DR STRING; 9606.ENSP00000369853; -.
DR GlyGen; Q9Y426; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y426; -.
DR PhosphoSitePlus; Q9Y426; -.
DR BioMuta; C2CD2; -.
DR DMDM; 85681926; -.
DR EPD; Q9Y426; -.
DR jPOST; Q9Y426; -.
DR MassIVE; Q9Y426; -.
DR MaxQB; Q9Y426; -.
DR PaxDb; Q9Y426; -.
DR PeptideAtlas; Q9Y426; -.
DR PRIDE; Q9Y426; -.
DR ProteomicsDB; 86093; -. [Q9Y426-1]
DR ProteomicsDB; 86094; -. [Q9Y426-2]
DR ProteomicsDB; 86095; -. [Q9Y426-3]
DR Antibodypedia; 23680; 61 antibodies from 11 providers.
DR DNASU; 25966; -.
DR Ensembl; ENST00000329623.11; ENSP00000329302.7; ENSG00000157617.17. [Q9Y426-2]
DR Ensembl; ENST00000380486.4; ENSP00000369853.3; ENSG00000157617.17. [Q9Y426-1]
DR GeneID; 25966; -.
DR KEGG; hsa:25966; -.
DR MANE-Select; ENST00000380486.4; ENSP00000369853.3; NM_015500.2; NP_056315.1.
DR UCSC; uc002yzv.4; human. [Q9Y426-1]
DR CTD; 25966; -.
DR DisGeNET; 25966; -.
DR GeneCards; C2CD2; -.
DR HGNC; HGNC:1266; C2CD2.
DR HPA; ENSG00000157617; Tissue enhanced (adrenal).
DR MIM; 617581; gene.
DR neXtProt; NX_Q9Y426; -.
DR OpenTargets; ENSG00000157617; -.
DR PharmGKB; PA162379018; -.
DR VEuPathDB; HostDB:ENSG00000157617; -.
DR eggNOG; ENOG502QV5U; Eukaryota.
DR GeneTree; ENSGT00530000063764; -.
DR HOGENOM; CLU_024872_0_0_1; -.
DR InParanoid; Q9Y426; -.
DR OMA; EFIFELN; -.
DR OrthoDB; 890695at2759; -.
DR PhylomeDB; Q9Y426; -.
DR TreeFam; TF331604; -.
DR PathwayCommons; Q9Y426; -.
DR SignaLink; Q9Y426; -.
DR BioGRID-ORCS; 25966; 8 hits in 1079 CRISPR screens.
DR ChiTaRS; C2CD2; human.
DR GenomeRNAi; 25966; -.
DR Pharos; Q9Y426; Tdark.
DR PRO; PR:Q9Y426; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q9Y426; protein.
DR Bgee; ENSG00000157617; Expressed in right adrenal gland cortex and 185 other tissues.
DR ExpressionAtlas; Q9Y426; baseline and differential.
DR Genevisible; Q9Y426; HS.
DR GO; GO:0005829; C:cytosol; HDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR Gene3D; 2.60.40.150; -; 1.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR039934; C2CD2/C2CD2L.
DR InterPro; IPR040885; SMP_C2CD2L.
DR PANTHER; PTHR21119; PTHR21119; 1.
DR Pfam; PF00168; C2; 1.
DR Pfam; PF18696; SMP_C2CD2L; 1.
DR SUPFAM; SSF49562; SSF49562; 1.
DR PROSITE; PS50004; C2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..696
FT /note="C2 domain-containing protein 2"
FT /id="PRO_0000045386"
FT TRANSMEM 13..33
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 51..242
FT /note="SMP-LBD"
FT /evidence="ECO:0000305"
FT DOMAIN 245..362
FT /note="C2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT REGION 539..580
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 60
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:E9Q3C1"
FT MOD_RES 435
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569"
FT MOD_RES 441
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 445
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 581
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:E9Q3C1"
FT VAR_SEQ 1..155
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_041071"
FT VAR_SEQ 521..525
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_041072"
FT VARIANT 211
FT /note="V -> A (in dbSNP:rs2839421)"
FT /id="VAR_050928"
FT VARIANT 618
FT /note="T -> A (in dbSNP:rs9981024)"
FT /id="VAR_050929"
FT CONFLICT 460
FT /note="A -> T (in Ref. 2; CAH10536)"
FT /evidence="ECO:0000305"
FT CONFLICT 639
FT /note="H -> R (in Ref. 2; CAH10536)"
FT /evidence="ECO:0000305"
FT CONFLICT 679
FT /note="S -> P (in Ref. 2; CAH10536)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 696 AA; 75533 MW; 73F757C8608061F9 CRC64;
MAMARLGSWL GEAQWLALVS LFVAALATVG LYLAQWALAR ARPQPQRRAV EPGEGPRPGS
DALLSWILTL GSWRSQWQAA WVTALNEEAE RKGGPPFLSF EEDPRQQALE LVVQEVSSVL
RSAEEKVVVC HVVGQAIQFL VSETPALGAG CRLYDMRLSP FHLQLEFHMK EKREDLQISW
SFISVPEMAV NIQPKALGED QVAETSAMSD VLKDILKHLA GSASPSVVLI TKPTTVKEAQ
NLQCAASTAQ ESCPPKPPRA HELKLLVRNI HVLLLSEPGA SGHINAVCVV QLNDPVQRFS
STLTKNTPDL MWEEEFTFEL NAKSKELHLQ ISEAGRSSEG LLATATVPLD LFKKQPSGPQ
SFTLTSGSAC GSSVLGSVTA EFSYMEPGEL KSWPIPPPVP AAKIEKDRTV MPCGTVVTTV
TAVKTKPRVD VGRASPLSSD SPVKTPIKVK VIEKDISVQA IACRSAPVSK TLSSSDTELL
VLNGSDPVAE VAIRQLSESS KLKLKSPRKK STIIISGISK TSLSQDHDAA LMQGYTASVD
STHQEDAPSH PERAAASAPP EEAESAQASL APKPQEDELD SWDLEKEPQA AAWSSQVLLD
PDGDELSESS MSVLEPGTAK KHKGGILRKG AKLFFRRRHQ QKDPGMSQSH NDLVFLEQPE
GSRRKGITLT RILNKKLLSR HRNKNTMNGA PVEPCT
